ClinVar Miner

List of variants in gene FOLR1 reported as uncertain significance for Inborn genetic diseases

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_016729.3(FOLR1):c.493+2T>C rs144637717 0.00134
NM_016729.3(FOLR1):c.103A>G (p.Asn35Asp) rs149216939 0.00028
NM_016729.3(FOLR1):c.719C>T (p.Ala240Val) rs147155003 0.00010
NM_016729.3(FOLR1):c.215A>G (p.Gln72Arg) rs148345688 0.00006
NM_016729.3(FOLR1):c.677C>T (p.Ala226Val) rs371399726 0.00006
NM_016729.3(FOLR1):c.13A>G (p.Met5Val) rs371565364 0.00004
NM_016729.3(FOLR1):c.71C>T (p.Thr24Ile) rs1038476253 0.00003
NM_016729.3(FOLR1):c.118G>A (p.Ala40Thr) rs766928917 0.00001
NM_016729.3(FOLR1):c.281C>G (p.Pro94Arg) rs759712157 0.00001
NM_016729.3(FOLR1):c.439C>T (p.Arg147Cys) rs1222897077 0.00001
NM_016729.3(FOLR1):c.45G>T (p.Trp15Cys) rs200261943 0.00001
NM_016729.3(FOLR1):c.22C>A (p.Gln8Lys)
NM_016729.3(FOLR1):c.335A>G (p.Asn112Ser) rs1325172613
NM_016729.3(FOLR1):c.397C>A (p.Pro133Thr)
NM_016729.3(FOLR1):c.415T>C (p.Cys139Arg) rs772484521
NM_016729.3(FOLR1):c.431A>G (p.Glu144Gly)
NM_016729.3(FOLR1):c.460A>G (p.Ser154Gly)
NM_016729.3(FOLR1):c.601A>T (p.Asn201Tyr) rs1026331856
NM_016729.3(FOLR1):c.65C>T (p.Ala22Val) rs1565363926
NM_016729.3(FOLR1):c.697A>G (p.Met233Val)
NM_016729.3(FOLR1):c.697A>T (p.Met233Leu)
NM_016729.3(FOLR1):c.706G>A (p.Ala236Thr)
NM_016729.3(FOLR1):c.749T>C (p.Leu250Pro) rs1565366051

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